Tbc1d10a MGI Mouse Gene Detail - MGI:2144164 - TBC1 domain family, member 10a

Symbol

Tbc1d10a
Name

TBC1 domain family, member 10a
Synonyms

EPI64, Tbc1d10

Feature Type

protein coding gene
IDs

MGI:2144164
NCBI Gene: 103724
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr11:4136789-4165505 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 2.92 cM
Mapping Data

1 experiment

SNPs within 2kb

568 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2144164	protein coding gene	Chr11:4136789-4167407 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017978	protein coding gene	Chr11:1119680-1148087 (+)
A/J	MGP_AJ_G0017951	protein coding gene	Chr11:1129841-1160099 (+)
AKR/J	MGP_AKRJ_G0017915	protein coding gene	Chr11:1185418-1213932 (+)
BALB/cJ	MGP_BALBcJ_G0017919	protein coding gene	Chr11:1098838-1129466 (+)
C3H/HeJ	MGP_C3HHeJ_G0017732	protein coding gene	Chr11:1080892-1111828 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018372	protein coding gene	Chr11:1199563-1228069 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016030	protein coding gene	Chr11:1010237-1039042 (+)
CAST/EiJ	MGP_CASTEiJ_G0017294	protein coding gene	Chr11:1045002-1073540 (+)
CBA/J	MGP_CBAJ_G0017707	protein coding gene	Chr11:1445343-1477172 (+)
DBA/2J	MGP_DBA2J_G0017818	protein coding gene	Chr11:1035289-1064030 (+)
FVB/NJ	MGP_FVBNJ_G0017809	protein coding gene	Chr11:1067573-1096280 (+)
LP/J	MGP_LPJ_G0017888	protein coding gene	Chr11:1224108-1253779 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017835	protein coding gene	Chr11:1113280-1142586 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018411	protein coding gene	Chr11:1193076-1221812 (+)
PWK/PhJ	MGP_PWKPhJ_G0017075	protein coding gene	Chr11:1037507-1066106 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016871	protein coding gene	Chr11:1149648-1184366 (+)
WSB/EiJ	MGP_WSBEiJ_G0017348	protein coding gene	Chr11:1057456-1086194 (+)

Human Ortholog

TBC1D10A, TBC1 domain family member 10A

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TBC1D10A, TBC1 domain family member 10A
Synonyms

dJ130H16.1, dJ130H16.2, EPI64, TBC1D10
Links

HGNC:23609

NCBI Gene ID: 83874

neXtProt AC: NX_Q9BXI6

UniProt: Q9BXI6
Chr Location

22q12.2; chr22:30291990-30326947 (-) GRCh38

MGI Vertebrate Homology

Tbc1d10a stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: TBC1D10A
Gene Tree

Tbc1d10a

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

9
Endonuclease-mediated

2
Gene trapped

1
Targeted

6
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

26 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit decreased circulating LDL cholesterol levels, decreased circulating alanine transaminase and alkaline phosphatase levels, abnormal liver physiology, and increased chromosomal stability.

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All GO Annotations

10
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

720
Tissues

2
cDNA Data

48
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tbc1d10a

ZFIN tbc1d10aa, tbc1d10ab

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All Sequences

50
RefSeq

2
UniProt

6
CCDS

CCDS56756.1

Ensembl

ENSMUSG00000034412 (Evidence)
NCBI Gene

103724

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034412	Ensembl Gene Model \| MGI Sequence Detail	28717	C57BL/6J	± kb
transcript	ENSMUST00000041042	Ensembl \| MGI Sequence Detail	1957	Not Applicable
polypeptide	ENSMUSP00000036861	Ensembl \| MGI Sequence Detail	534	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000029779 TBC1 domain family member 10A

(term hierarchy)
InterPro Domains

IPR000195 Rab-GAP-TBC domain

IPR035969 Rab-GAP-TBC domain superfamily

IPR050302 Rab GTPase-activating TBC domain-containing protein
GlyGen

P58802 1 site, 1 O-linked glycan (1 site)

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All nucleic 48

cDNA 48

Microarray probesets 3

Summaries

All 32

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 7
Earliest

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
Latest

J:274872 Ingham NJ, et al., Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS Biol. 2019 Apr;17(4):e3000194

TSS for Tbc1d10a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr100101	Chr11:4136807-4136865 (+)	47 bp
Tssr100102	Chr11:4136866-4136877 (+)	83 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24